Publications & More

Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.

Tarilonte M, Ramos P, Moya J, Fernandez-Sanz G, Blanco-Kelly F, Swafiri ST, Villaverde C, Romero R, Tamayo A, Gener B, Calvas P, Ayuso C, Corton M. (2021) J Med Genet: 2020-106932.

DOI: 10.1136/jmedgenet-2020-106932

Increased Cell Survival of Human Primary Conjunctival Stem Cells in Dimethyl Sulfoxide-Based Cryopreservation Media.

van Velthoven AJH, Bertolin M, Barbaro V, Sthijns MMJPE, Nuijts RMMA, LaPointe VLS, Dickman MM, Ferrari S. Biopreserv Biobank. 2021 Feb;19(1):67-72.

DOI: 10.1089/bio.2020.0091.

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

Lagali N, Wowra B, Fries F, Latta L, Moslemani K, Utheim TP, Wylegala E, Seitz B, Käsmann-Kellner B. Ocul Surf (2020), 18 (1), 130-140.

DOI: 10.1016/j.jtos.2019.11.002

Aniridia With PAX6 Mutations and Narcolepsy .

Berntsson SG, Kristoffersson A, Daniilidou  M, Dahl  N, Ekström  C, Semnic  R, Markström  A, Niemelä V, Partinen  M, Hallböök  F, Landtblom  AM. J Sleep Res (2020), e12982 2020.

DOI: 10.1111/jsr.12982

Abnormal Neovascular and Proliferative Conjunctival Phenotype in Limbal Stem Cell Deficiency Is Associated With Altered microRNA and Gene Expression Modulated by PAX6 Mutational Status in Congenital Aniridia.

Latta L, Ludwig N, Krammes L, Stachon T, Fries FN, Mukwaya  A, Szentmáry  N, Seitz  B, Wowra  B, Kahraman  M, Keller  A, Meese  E, Lagali  N, Käsmann-Kellner  B. Ocul Surf. 2020 May 15;S1542-0124(20)30077-X.

DOI: 10.1016/j.jtos.2020.04.014

PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.

Pedersen HR, Baraas RC, Landsend ECS,Utheim OA, Utheim TP, Gilson SJ and Neitz M. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):14.

DOI: 10.1167/iovs.61.5.14

PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.

Pedersen HR, Baraas RC, Landsend ECS,Utheim OA, Utheim TP, Gilson SJ and Neitz M. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):14.

DOI: 10.1167/iovs.61.5.14

Characteristics and Utility of Fundus Autofluorescence in Congenital Aniridia Using Scanning Laser Ophthalmoscopy.

Landsend ECS, Pedersen HR, Utheim A, Rueegg CS, Baraas RC, Lagali N, Bragadóttir R, Moe MC, Utheim TP. Invest Ophthalmol Vis Sci (2019);60(13):4120-4128.

DOI: 10.1167/iovs.19-26994

A proof-of-concept clinical trial using mesenchymal stem cells for the treatment of corneal epithelial stem cell deficiency. 

Calonge M, Pérez I, Galindo S, Nieto-Miguel T, López-Paniagua M, Fernández I, Alberca M, García-Sancho J, Sánchez A, Herreras JM. Transl Res. 2019;206:18-40.

DOI: 10.1016/j.trsl.2018.11.003

Meibomian Gland Dysfunction and Keratopathy are Associated with Dry Eye Disease in Aniridia.

Landsend ECS, Pedersen HR, Utheim ØA, Xiao J, Adil MY, Tashbayev B, Lagali N, Dartt DA, Baraas RC, Utheim TP. Br J Ophthalmol. 2019 Jan;103(1):119-124.

DOI: 10.1136/bjophthalmol-2017-310927
Epub 2018 Mar 8.

Congenital Aniridia in Children

Bremond-Gignac D. Rev Prat. 2019 Jan;69(1):67-70.

PMID: 30983291

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

Cunha DL, Gavin A, Corton M, and Moosajee M. Genes 2019, 10(12), 1050.

DOI: 10.3390/genes10121050

The Level of Inflammatory Tear Cytokines is Elevated in Congenital Aniridia and Associated with Meibomian Gland Dysfunction.

Landsend ECS, Utheim ØA, Pedersen HR, Aass HCD, Lagali N, Dartt DA, Baraas RC, Utheim TP. Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):2197-2204.

DOI: 10.1167/iovs.18-24027

PAX6 mutational status determines aniridia-associated keratopathy phenotype.

Lagali N, Wowra B, Fries F, Latta L, Moslemani K, Utheim TP, Wylegala E, Seitz B, Käsmann-Kellner B. Ophthalmology (2019).

DOI: 10.1016/j.ophtha.2019.09.034

Stem Cell Therapy for Corneal Epithelium Regeneration following Good Manufacturing and Clinical Procedures. 

Ramírez BE, Sánchez A, Herreras JM, Fernández I, García-Sancho J, Nieto-Miguel T, Calonge M. Biomed Res Int. 2015;2015:408495.

DOI: 10.1155/2015/408495

Find more scientific articles on aniridia HERE!

European Network for a rare eye disease: ANIRIDIA-NET
Ivana Kildsgaard, Juliana Martínez Atienza, Claus Cursiefen, Neil Lagali.

Presented on the European Conference on Rare Diseases 2020

El diagnóstico genético de la aniridia nos acerca a su tratamiento personalizado [Spanish] – Juliana Martínez-Atienza

Webinar on aniridia treatment, research and the ANIRIDIA-NET COST Action.

Neil Lagali, Claus Cursiefen and Ivana Kildsgaard – Aniridia Europe & ANIRIDIA-NET

WSPOS World Wide Webinar 14: On Aniridia

Hannah Scanga, David Walton, Neil Lagali, Dominique Brémond-Gignac & Ken K. Nischal.

Aniridia-Net COST Action CA#18116 – 2021 Printable Calendar